Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Several types of thalassemia exist, including alpha-thalassemia, beta-thalassemia, Cooley's anemia and Mediterranean anemia.
Hemoglobin is the substance in your red blood cells that allows them to carry oxygen. The low hemoglobin and fewer red blood cells of thalassemia may cause anemia, leaving you fatigued.
If you have mild thalassemia, you may not need treatment. But, if you have a more severe form of thalassemia, you may need regular blood transfusions. You can also take steps on your own to cope with fatigue, such as choosing a healthy diet and exercising regularly.
Signs and symptoms of thalassemia include:
The signs and symptoms you experience depend on the type and severity of thalassemia you have. Some babies show signs and symptoms of thalassemia at birth, while others may develop signs or symptoms during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.
When to see a doctor
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
The mutations that cause thalassemia disrupt the normal production of hemoglobin and cause low hemoglobin levels and a high rate of red blood cell destruction, causing anemia. When you're anemic, your blood doesn't have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.
Types of thalassemia
Factors that increase your risk of thalassemia include:
Possible complications of thalassemia include:
In cases of severe thalassemia, the following complications can occur:
Preparing for your appointment
People with moderate to severe forms of thalassemia are usually diagnosed within the first two years of life. If you've noticed some of the signs and symptoms of thalassemia in your infant or child, see your family doctor or pediatrician. You may then be referred to a doctor who specializes in blood disorders (hematologist).
Because appointments can be brief, and there's often a lot of ground to cover, it's a good idea to be well prepared. Here's some information to help you get ready, and what to expect from your doctor.
What you can do
Your time with your doctor may be limited, so preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For thalassemia, some basic questions to ask your doctor include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment anytime you don't understand something.
What to expect from your doctor
Tests and diagnosis
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she may confirm a diagnosis using blood tests.
If your child has thalassemia, blood tests may reveal:
Blood tests may also be used to:
Assisted reproductive technology
Treatments and drugs
Treatment for thalassemia depends on which type you have and how severe it is.
Treatments for mild thalassemia
Treatment for moderate to severe thalassemia
Lifestyle and home remedies
If you have thalassemia, be sure to:
Coping and support
Coping with thalassemia can be challenging. But, you don't have to do it alone. If you have questions or would like guidance, talk with a member of your health care team. You may also benefit from joining a support group. Such a group can provide both sympathetic listening and useful information. To find out about support groups in your area that deal with thalassemia, ask your doctor or contact the Cooley's Anemia Foundation at 800-522-7222.
In most cases, thalassemia can't be prevented. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance before you have or father a child.
Last Updated: 2011-02-04
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